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Exploration of GCase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies — EGELY  

Dementia With Lewy Bodies Clinical Trial

Official title:
Exploration of Glucocerebrosidase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies

Clinical Trial Summary

This research focuses on the activity of an enzymatic protein: glucocerebrosidase, in dementia with lewy bodies (DLB). Indeed, the mutation of the GBA gene responsible for a decrease in the activity of glucocerebrosidase is the most frequent known genetic risk factor in DLB. However, mutations of the GBA gene are known in another pathology, Gaucher disease, in which treatments have been developed. The objective of this research is to determine if glucocerebrosidase activity is decreased in DLB. This hypothesis could open up a therapeutic perspective, with treatments already used in Gaucher disease.

Clinical Trial Description

Population: 118 patients and 118 control subjects Act of research: blood test Objectifs : - Comparison of glucocerebrosidase activity between patients and controls - Search for variants or mutations of the GBA gene and correlation with glucocerebrosidase activity - Correlation between clinical characteristics (UPDRS motor scale, MMSE cognitive scale) and GCase activity in patients ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT05304195
Study type Observational
Source Assistance Publique - Hôpitaux de Paris
Contact Claire HOURREGUE, MD
Phone 0140054313
Email claire.hourregue@aphp.fr
Status Recruiting
Phase
Start date February 17, 2023
Completion date June 2025
View Details
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